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Harnessing multi-omics to deliver innovative diagnostic care for rare genetic diseases in Canada (C4R-SOLVE)

PROJECT LEAD(S)/CO-LEAD(S) Kim Boycott (University of Ottawa Children's Hospital of Eastern Ontario Research Institute), Francois Bernier (University of Calgary), Michael Brudno (University of Toronto), & Clara van Karnebeek (University of British Columbia)
COMPETITION/ FUNDING OPPORTUNITY Genome Canada 2017 Large-Scale Applied Research Competition: Genomics and Precision Health
PROJECT START DATE April 1, 2018
PROJECT END DATE March 31, 2024
ALBERTA’S ROLE Co-Lead

There are about 7,000 rare genetic diseases (RDs) that affect more than one million Canadians. RDs have a devastating impact on Canadians: two-thirds cause significant disability, three-quarters affect children, more than half lead to early death, and almost all have no treatment. The cause of more than one-third of the 7000 RDs is currently unknown. To understand the remaining unsolved RDs, C4R-SOLVE is exploring new sequencing technologies and improving data sharing world-wide, enabling the discovery of new causes of RDs. By achieving its goal, the C4R-SOLVE project will more than double our ability to diagnose this one third of RD patients, while building the infrastructure and tools needed to improve RD diagnosis around the world.

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